genetic condition

[natalie86530]

My 18month old son has an unknown genetic condition , he has excess skin folds on both his arms and legs and also had excessive hair when he was born, he sarted having epileptic seizures when he was 5months old, also an mri scan has shown his brain hasnt developed wen i was pregnant which means his brain is adnormal

[emamoustafa]

My son is 12 weeks old and he has achondroplasia,he was born with large head and short limbs.when he was 9 days old he had repeated attacks of central apnea and cyanosis,the condition has been repeated every 7-9 days,what shall i do i don't know?will the condition regress when he grows up or is it serious and leads to death?

[Soggymoggy]

Hi Natalie,

Without a complete description and knowing what's already been ruled out it's hard to say, but google SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) and see if it makes sense.  Only thing that springs to mind, but I'll keep thinking.

Best of luck!